Understanding Carbamoyl-Phosphate Synthetase 1 Deficiency: A Comprehensive Guide
Understanding Carbamoyl-Phosphate Synthetase 1 Deficiency: A Comprehensive Guide Carbamoyl-Phosphate Synthetase 1 Deficiency (CPS1 Deficiency) is a rare genetic metabolic disorder affecting the urea cycle. This crucial cycle is responsible for removing ammonia, a toxic waste product, from the body. When CPS1, the first enzyme in the urea cycle, is deficient or absent, ammonia builds up … Read more